Cancer Genetics Hereditary Cancer Panel Testing (HCP)
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ClinicalTrials.gov Identifier: NCT02324062 |
Recruitment Status :
Completed
First Posted : December 24, 2014
Last Update Posted : April 11, 2017
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Condition or disease | Intervention/treatment |
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Hereditary Breast and Ovarian Cancer | Other: Questionnaires Other: Blood Draw and Baseline Questionnaire |
Study Type : | Observational |
Actual Enrollment : | 1511 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing |
Actual Study Start Date : | June 12, 2014 |
Actual Primary Completion Date : | January 5, 2017 |
Actual Study Completion Date : | January 5, 2017 |
Group/Cohort | Intervention/treatment |
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Pathogenic group
Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. Patients identified with a mutation in a gene not commonly tested for prior to the advent of multiplex panel testing. This excludes BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MYH unless a patient tested positive for one of these 9 genes but did not meet clinical criteria for the underlying syndrome (n = 124). These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months. |
Other: Questionnaires
These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months. Other: Blood Draw and Baseline Questionnaire Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. |
VUS group
Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. Patients identified with a variant of unknown significance of any gene of any nonBRCA (BRCA1 and BRCA2) or non-Lynch syndrome gene (MLH1, MSH2, MSH6, PMS2 and EPCAM). Target accrual is 100. These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months. |
Other: Questionnaires
These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months. Other: Blood Draw and Baseline Questionnaire Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. |
Negative Group
Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. Patients who test negative for all the genes tested. Target goal is 50 for Stanford (100 for the study). These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months. |
Other: Questionnaires
These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months. Other: Blood Draw and Baseline Questionnaire Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. |
No follow-up intervention group
Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. All other participants who do not meet any of the above criteria or fall into one of these groups after the target goal is met for that group. |
Other: Blood Draw and Baseline Questionnaire
Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. |
- Develop Hereditary Cancer panel repository [ Time Frame: 3 years ]Develop a resource (repository and database) with banked specimens, HCP panel results, pre-clinical and follow up information and impact of the HCP results
- Analyze frequency of genes found on HCP panel in high-risk population [ Time Frame: 3 years ]Summarize results of the HCP testing in terms of genes found with mutations and the frequency of mutation. The investigators will review expected versus actual off target or incidental findings from HCP testing. Off target findings will be classified into clinical actionable versus variants of uncertain significance (VUS). Incidence rates of off target mutations will be quantified and types of mutations will be qualitatively described.
- Follow medical management of subjects after multi-gene panel testing [ Time Frame: 5 years ]Summarize the medical management of these subjects - prior to testing after results disclosure of testing, and over the subsequent 5 years. The investigators will descriptively report changes to medical management from pre-cancer risk assessment and HCP testing and post-cancer risk assessment and HCP testing. For each patient, the investigators will determine whether the HCP result leads to a change in recommendation in regards to the risk reducing interventions and treatment.
- Descriptive analysis of patient information gained through process [ Time Frame: 5 years ]
Perform descriptive analyses of information gained, in terms of reported patient experience and understanding of HCP testing. The investigators will measure the time it takes to reach a diagnosis with panel testing as compared to the sum of the average turnaround time (based on measurements supplied by Myriad Genetics) for sequential testing of single candidate genes. Bayesian models will be developed to measure the effect of an HCP actionable mutation result or an HCP VUS results on the final differential diagnosis of the patient. The Bayesian paradigm allows one to update the likelihood or probability of the event under consideration as more information becomes available.
In addition to the questionnaire that subjects will complete about their intent to undergo risk-reducing interventions (Specific Aim 5), subjects will also complete a questionnaire to measure concerns and psychosocial issues associated with genetic testing.
Biospecimen Retention: Samples With DNA
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:Screening Criteria Patients meeting one of the following criteria will be eligible for screening the study.
- Any individual with multiple primary cancers
- Any individual diagnosed with cancer under age 50
- Individuals with two or more first or second-degree relatives with cancer.
- Individuals from families where at least one family member was diagnosed with cancer under age 50
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Individuals meeting a phenotypic diagnosis of specific hereditary cancer syndromes including, but not limited to:
- Hereditary Breast and Ovarian Cancer
- Lynch Syndrome
- Familial or Attenuated Adenomatous Polyposis Syndrome
- Hereditary Melanoma Syndrome
- Hereditary Pancreatic Syndrome
- Li Fraumeni Syndrome
- Cowden Syndrome
- Hereditary Diffuse Gastric Cancer
- Peutz Jeghers Syndrome
- Juvenile Polyposis Syndrome
- Ataxia Telangiectasia (Louis-Bar syndrome)
Individuals with a pretest mutation probability of > 2.5% based on validated published models 15
- Mismatch Repair (MMR)pro
- Prediction model for mutL homolog 1 (MLH1), muS homolg 2 (MSH2), and mutS homolog 6 (MSH6) gene mutations (Premm 1,2,6)
- Pancreas (Panc)Pro
- Melanoma (Mela)Pro
- Breast cancer (BRCA)Pro
- Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA)
- International Breast Cancer Intervention Study (IBIS) (Tyler-Cuzick)
- Myriad II
- Phosphatase and tensin homolog (PTEN) Cleveland Clinic Score
- Clinical probability of > 2.5% where models are not available
Or one of the following:
Individuals with a phenotypic diagnosis of the following recognized cancer genetic syndromes which automatically confers a clinical chance of > 2.5%:
- Hereditary Breast and Ovarian Cancer
- Lynch Syndrome
- Familial or Attenuated Adenomatous Polyposis Syndrome
- Hereditary Melanoma Syndrome
- Hereditary Pancreatic Syndrome
- Li Fraumeni Syndrome
- Cowden Syndrome
- Hereditary Diffuse Gastric Cancer
- Peutz Jeghers Syndrome
- Juvenile Polyposis Syndrome
- Ataxia Telangiectasia (Louis-Bar syndrome) Participation will be open to patients of both sexes, all races and ethnic backgrounds, and of all ages. Subjects will include healthy individuals, cancer survivors, and patients actively being treated for cancer. Individuals at-risk for a hereditary cancer syndrome under age 18 will eligible for HCP testing if they meet the eligibility criteria with written parental consent and child assent where appropriate. Cognitively impaired adult subjects will be invited to participate through the written, informed consent of a legal representative designated on the consent form.
Exclusion Criteria:
Patients meeting one of the following criteria will be excluded the study
- Individuals with a pretest mutation probability of < 2.5% based on validated published models
- Prior genetic testing for germline cancer susceptibility
- Inability to provide written informed consent
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02324062
United States, California | |
University of Southern California/ Kenneth Norris, Jr. Comprehensive Cancer Center and Hospital | |
Los Angeles, California, United States, 90089-9181 | |
Stanford University | |
Stanford, California, United States, 94305 |
Principal Investigator: | Gregory Idos, MD | Assistant Professor |
Responsible Party: | University of Southern California |
ClinicalTrials.gov Identifier: | NCT02324062 |
Other Study ID Numbers: |
0S-13-1 |
First Posted: | December 24, 2014 Key Record Dates |
Last Update Posted: | April 11, 2017 |
Last Verified: | April 2017 |
Cancer Genetics Multi-gene cancer panel testing |
Hereditary Breast and Ovarian Cancer Syndrome Ovarian Neoplasms Endocrine Gland Neoplasms Neoplasms by Site Neoplasms Ovarian Diseases Adnexal Diseases Genital Diseases, Female Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Urogenital Diseases |
Genital Neoplasms, Female Urogenital Neoplasms Genital Diseases Endocrine System Diseases Gonadal Disorders Breast Neoplasms Neoplastic Syndromes, Hereditary Genetic Diseases, Inborn Breast Diseases Skin Diseases |